Disease Information for Bowen Conradi/Bowen Hutterite Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Low birth weight/newborn/SGA/Small for gestational age
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Digital deformities/symmetric
Deformed hand/digits
Foot deformity
Incurved/fifth fingers
Snoring
Growth/development delay
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Population/Infant
Population/Neonate-newborn
Associated Diseases & Rule outs
Associated Disease & Complications
Clubbed foot/congenital
Congenital urinary tract malformations
Cryptorchidism
Facial dysplasia
Limb deformities/anomalies
Neonatal Erythroderma
Disease Mechanism & Classification
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Definition

Bowen Hutterite Syndrome; Bowen-Conradi Hutterite Syndrome;

Bowen-Conradi Syndrome; Hutterite Syndrome; Bowen-Conradi Type; Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital); The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities; These may include restricted joint movements, abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, foot deformities, and/or undescended testes (cryptorchidism) in affected males; Some affected infants may also have kidney (renal), brain, and/or other malformations; Bowen Hutterite syndrome is inherited as an autosomal recessive trait---------------[NORD 2005]----------------------

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External Links Related to Bowen Conradi/Bowen Hutterite Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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